{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T08:13:04Z","timestamp":1769933584087,"version":"3.49.0"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:p>\n            Objective\u2003This article elucidates a clinical and genetic approach to pediatric early-onset chorea in patients with normal neuroimaging.<\/jats:p><jats:p>\n            Methods\u2003We retrospectively studied patients with onset hyperkinetic movement disorders. Only children with onset of chorea in the first 3 years of life were included, those with an abnormal magnetic resonance imaging (MRI) or electroencephalogram (EEG) were excluded.<\/jats:p><jats:p>We studied the movement disorder phenotype by clinical examination and by interpretation of videos and compared our data to the literature.<\/jats:p><jats:p>\n            Results\u2003Four patients, aged 2 to 13 years, were diagnosed. Abnormal involuntary movements appeared between the ages of 6 months to 3 years in association with developmental delay. One patient has a close relative with NKX2.1-related chorea. One patient is from Iraqi-Jewish origin. Facial twitches and nocturnal dyskinetic attacks were observed in one.<\/jats:p><jats:p>The unique clinical presentation and family history enabled genetic diagnosis by molecular analysis of a specific mutation in two (NKX2.1, OPA3) and Sanger sequencing of a target gene in one (ADCY5). One patient was diagnosed by whole-exome sequencing (WES) (GNAO1).<\/jats:p><jats:p>\n            Conclusion\u2003By carefully recording the phenotype and genetic background, a single gene can be suspected in some cases. In the rest, we suggest multigene panels or WES study.<\/jats:p>","DOI":"10.1055\/s-0038-1645884","type":"journal-article","created":{"date-parts":[[2018,5,25]],"date-time":"2018-05-25T19:01:06Z","timestamp":1527274866000},"page":"246-255","source":"Crossref","is-referenced-by-count":13,"title":["Multiple Causes of Pediatric Early Onset Chorea\u2014Clinical and Genetic Approach"],"prefix":"10.1055","volume":"49","author":[{"given":"Tally","family":"Lerman-Sagie","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel"},{"name":"Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel"},{"name":"Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Westenberger","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics, University of Lubeck, Lubeck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilla","family":"Ben-Pazi","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit, Shaare Zedek Medical Center, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayelet","family":"Zerem","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel"},{"name":"Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel"},{"name":"Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keren","family":"Yosovich","sequence":"first","affiliation":[{"name":"Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel"},{"name":"Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel"},{"name":"Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorit","family":"Lev","sequence":"first","affiliation":[{"name":"Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel"},{"name":"Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel"},{"name":"Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubov","family":"Blumkin","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Clinic, Wolfson Medical Center, Holon, Israel"},{"name":"Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel"},{"name":"Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel"},{"name":"Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2018,5,25]]},"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0038-1645884.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,7,9]],"date-time":"2018-07-09T18:51:32Z","timestamp":1531162292000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0038-1645884"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,25]]},"references-count":0,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2018,7,9]]},"published-print":{"date-parts":[[2018,8]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0038-1645884","relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,25]]}}}